Additional Disease Briefs

CHIME syndrome

Also known as: CHIME, CHIME syndrome, PIGL-CDG, Zunich neuroectodermal syndrome, Zunich-Kaye syndrome, coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, and ear anomalies syndrome, coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome, coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome, congenital disorder of glycosylation due to PIGL deficiency, glycosylphosphatidylinositol biosynthesis defect 5, neuroectodermal dysplasia, CHIME type, neuroectodermal syndrome, Zunich type

choanal atresia

Also known as: PCA, atresia of nares, choanal atresia, POSTERIOR, imperforate nares, posterior choanal atresia

choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome

Also known as: BCAHH, KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome, branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome

choanal atresia, bilateral

choanal atresia, unilateral

cholestasis, intrahepatic, of pregnancy, 1

Also known as: ICP1, cholestasis, intrahepatic, of pregnancy, 1, cholestasis, intrahepatic, of pregnancy, type 1, cholestasis, pregnancy-related, 1

cholestasis, intrahepatic, of pregnancy, 3

Also known as: ICP3, cholestasis, intrahepatic, of pregnancy 3, cholestasis, intrahepatic, of pregnancy type 3

cholestasis, progressive familial intrahepatic, 10

Also known as: PFIC10, cholestasis, progressive familial intrahepatic, 10